학술논문
'학술논문'
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1~10
Academic Journal
Chong, Jessica X; McMillin, Margaret J; Shively, Kathryn M; Beck, Anita E; Marvin, Colby T; Armenteros, Jose R; Buckingham, Kati J; Nkinsi, Naomi T; Boyle, Evan A; Berry, Margaret N; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul CM; Kaplan, Paige; Kline, Antonie D; Mercer, Catherine L; Nowaczyk, Malgorzata JM; Wassink-Ruiter, Jolien S Klein; McPherson, Elizabeth W; Moreno, Regina A; Scheuerle, Angela E; Shashi, Vandana; Stevens, Cathy A; Carey, John C; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Genomics, University of Washington Center for Mendelian; Bamshad, Michael J; Abecasis, Gonçalo R; Anderson, Peter; Blue, Elizabeth Marchani; Annable, Marcus; Browning, Brian L; Chen, Christina; Chin, Jennifer; Cooper, Gregory M; Davis, Colleen P; Frazar, Christopher; Harrell, Tanya M; He, Zongxiao; Jain, Preti; Jarvik, Gail P; Jimenez, Guillaume; Johanson, Eric; Jun, Goo; Kircher, Martin; Kolar, Tom; Krauter, Stephanie A; Krumm, Niklas; Leal, Suzanne M; Luksic, Daniel; McGee, Sean; O’Reilly, Patrick; Paeper, Bryan; Patterson, Karynne; Perez, Marcos; Phillips, Sam W; Pijoan, Jessica; Poel, Christa; Reinier, Frederic; Robertson, Peggy D; Santos-Cortez, Regie; Shaffer, Tristan; Shephard, Cindy; Siegel, Deborah L; Staples, Jeffrey C; Tackett, Monica; Underwood, Jason G; Wegener, Marc; Wang, Gao; Wheeler, Marsha M; Yi, Qian
American Journal of Human Genetics. 96(3)
Academic Journal
Chassaing, Nicolas; Sorrentino, Susanna; Davis, Erica E; Martin-Coignard, Dominique; Iacovelli, Anthony; Paznekas, William; Webb, Bryn D; Faye-Petersen, Ona; Encha-Razavi, Férechté; Lequeux, Leopoldine; Vigouroux, Adeline; Yesilyurt, Ahmet; Boyadjiev, Simeon A; Kayserili, Hülya; Loget, Philippe; Carles, Dominique; Sergi, Consolato; Puvabanditsin, Surasak; Chen, Chih-Ping; Etchevers, Heather C; Katsanis, Nicholas; Mercer, Catherine L; Calvas, Patrick; Jabs, Ethylin Wang
Journal of Medical Genetics. Jun 01, 2012 49(6):373-379
Electronic Resource
Karolak, Justyna A; Vincent, Marie; Deutsch, Gail; Gambin, Tomasz; Cogné, Benjamin; Pichon, Olivier; Vetrini, Francesco; Mefford, Heather C; Dines, Jennifer N; Golden-Grant, Katie; Dipple, Katrina; Freed, Amanda S; Leppig, Kathleen A; Dishop, Megan; Mowat, David; Bennetts, Bruce; Gifford, Andrew J; Weber, Martin A; Lee, Anna F; Boerkoel, Cornelius F; Bartell, Tina M; Ward-Melver, Catherine; Besnard, Thomas; Petit, Florence; Bache, Iben; Tümer, Zeynep; Denis-Musquer, Marie; Joubert, Madeleine; Martinovic, Jelena; Bénéteau, Claire; Molin, Arnaud; Carles, Dominique; André, Gwenaelle; Bieth, Eric; Chassaing, Nicolas; Devisme, Louise; Chalabreysse, Lara; Pasquier, Laurent; Secq, Véronique; Don, Massimiliano; Orsaria, Maria; Missirian, Chantal; Mortreux, Jérémie; Sanlaville, Damien; Pons, Linda; Küry, Sébastien; Bézieau, Stéphane; Liet, Jean-Michel; Joram, Nicolas; Bihouée, Tiphaine; Scott, Daryl A; Brown, Chester W; Scaglia, Fernando; Tsai, Anne Chun-Hui; Grange, Dorothy K; Phillips, John A; Pfotenhauer, Jean P; Jhangiani, Shalini N; Gonzaga-Jauregui, Claudia G; Chung, Wendy K; Schauer, Galen M; Lipson, Mark H; Mercer, Catherine L; van Haeringen, Arie; Liu, Qian; Popek, Edwina; Coban Akdemir, Zeynep H; Lupski, James R; Szafranski, Przemyslaw; Isidor, Bertrand; Le Caignec, Cedric; Stankiewicz, Paweł
Karolak , J A , Vincent , M , Deutsch , G , Gambin , T , Cogné , B , Pichon , O , Vetrini , F , Mefford , H C , Dines , J N , Golden-Grant , K , Dipple , K , Freed , A S , Leppig , K A , Dishop , M , Mowat , D , Bennetts , B , Gifford , A J , Weber , M A , Lee , A F , Boerkoel , C F , Bartell , T M , Ward-Melver , C , Besnard , T , Petit , F , Bache , I , Tümer , Z , Denis-Musquer , M , Joubert , M , Martinovic , J , Bénéteau , C , Molin , A , Carles , D , André , G , Bieth , E , Chassaing , N , Devisme , L , Chalabreysse , L , Pasquier , L , Secq , V , Don , M , Orsaria , M , Missirian , C , Mortreux , J , Sanlaville , D , Pons , L , Küry , S , Bézieau , S , Liet , J-M , Joram , N , Bihouée , T , Scott , D A , Brown , C W , Scaglia , F , Tsai , A C-H , Grange , D K , Phillips , J A , Pfotenhauer , J P , Jhangiani , S N , Gonzaga-Jauregui , C G , Chung , W K , Schauer , G M , Lipson , M H , Mercer , C L , van Haeringen , A , Liu , Q , Popek , E , Coban Akdemir , Z H , Lupski , J R , Szafranski , P , Isidor , B , Le Caignec , C & Stankiewicz , P 2019 , ' Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the TBX-FGF Pathway ' , American Journal of Human Genetics , vol. 104 , no. 2 , pp. 213-228 .
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[AR] Mercer, Catherine L
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